Colágeno Tipo II Alfa 1

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Colágeno Tipo II Alfa 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)
Indicadores
Símbolo COL2A1
Símbolos alt. SEDC
HUGO 2200
Entrez 1280
OMIM 120140
RefSeq NM_001844
UniProt P02458
Outros dados
Locus Cr. 12 q12-q13.2

Colágeno Tipo II Alfa 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital), também conhecido como COL2A1, é um gene humano que providencia instruções para a produção da cadeia pro-alfa1(II) de colágeno tipo II.

Colágeno Tipo II, o qual adiciona estrutura e força aos tecidos conjuntivos, é encontrado primariamente na cartilagem. Três cadeias pro-alfa1(II) se entrelaçam para formar uma molécula procolágeno em forma de corda. Essas moléculas procolágeno devem ser processadas por enzimas na célula. Uma vez processadas, elas deixam a célula e se arranjam em longos e finos fibrilos que ligam-se uns aos outros nos espaços ao redor das células. Isso resulta na formação de fibras de colágeno tipo II fortes e maduras.

O gene COL2A1 está loaclizado no longo braço (q) do cromossoma 12 entre as posições 13.11 e 13.2, do Par de bases 46,653,017 ao par de bases 46,684,527.

Referências[editar | editar código-fonte]

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  • Cheah KS, Stoker NG, Griffin JR, Grosveld FG, Solomon E. (1985). "Identification and characterization of the human type II collagen gene (COL2A1)". Proc Natl Acad Sci U S A 82 (9): 2555–9. DOI:10.1073/pnas.82.9.2555. PMID 3857598.
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  • Mortier GR, Weis M, Nuytinck L, King LM, Wilkin DJ, De Paepe A, Lachman RS, Rimoin DL, Eyre DR, Cohn DH. (2000). "Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder". J Med Genet 37 (4): 263–71. DOI:10.1136/jmg.37.4.263. PMID 10745044.
  • Richards AJ, Baguley DM, Yates JR, Lane C, Nicol M, Harper PS, Scott JD, Snead MP. (2000). "Variation in the vitreous phenotype of Stickler syndrome can be caused by different amino acid substitutions in the X position of the type II collagen Gly-X-Y triple helix". Am J Hum Genet 67 (5): 1083–94. PMID 11007540.
  • Snead MP, Yates JR. (1999). "Clinical and Molecular genetics of Stickler syndrome". J Med Genet 36 (5): 353–9. PMID 10353778.
  • Tiller GE, Polumbo PA, Weis MA, Bogaert R, Lachman RS, Cohn DH, Rimoin DL, Eyre DR. (1995). "Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type". Nat Genet 11 (1): 87–9. DOI:10.1038/ng0995-87. PMID 7550321.
  • Tysoe C, Saunders J, White L, Hills N, Nicol M, Evans G, Cole T, Chapman S, Pope FM. (2003). "A glycine to aspartic acid substitution of COL2A1 in a family with the Strudwick variant of spondyloepimetaphyseal dysplasia". QJM 96 (9): 663–71. DOI:10.1093/qjmed/hcg112. PMID 12925722.
  • Weis MA, Wilkin DJ, Kim HJ, Wilcox WR, Lachman RS, Rimoin DL, Cohn DH, Eyre DR. (1998). "Structurally abnormal type II collagen in a severe form of Kniest dysplasia caused by an exon 24 skipping mutation". J Biol Chem 273 (8): 4761–8. DOI:10.1074/jbc.273.8.4761. PMID 9468540.
  • Wilkin DJ, Artz AS, South S, Lachman RS, Rimoin DL, Wilcox WR, McKusick VA, Stratakis CA, Francomano CA, Cohn DH. (1999). "Small deletions in the type II collagen triple helix produce kniest dysplasia". Am J Med Genet 85 (2): 105–12. DOI:<105::AID-AJMG2>3.0.CO;2-Z 10.1002/(SICI)1096-8628(19990716)85:2<105::AID-AJMG2>3.0.CO;2-Z. PMID 10406661.
  • Zabel B, Hilbert K, Stoss H, Superti-Furga A, Spranger J, Winterpacht A. (1996). "A specific collagen type II gene (COL2A1) mutation presenting as spondyloperipheral dysplasia". Am J Med Genet 63 (1): 123–8. DOI:<123::AID-AJMG22>3.0.CO;2-P 10.1002/(SICI)1096-8628(19960503)63:1<123::AID-AJMG22>3.0.CO;2-P. PMID 8723097.
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  • Zankl A, Zabel B, Hilbert K, Wildhardt G, Cuenot S, Xavier B, Ha-Vinh R, Bonafe L, Spranger J, Superti-Furga A. (2004). "Spondyloperipheral dysplasia is caused by truncating mutations in the C-propeptide of COL2A1". Am J Med Genet A 129 (2): 144–8. DOI:10.1002/ajmg.a.30222. PMID 15316962.

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